TTR transthyretin [Homo sapiens (human)] - Gene

Summary

Official Symbol: TTRprovided by HGNC
Official Full Name: transthyretinprovided by HGNC
Primary source: HGNC:HGNC:12405
See related: Ensembl:ENSG00000118271 MIM:176300; AllianceGenome:HGNC:12405
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CTS; TTN; ATTR; CTS1; PALB; TBPA; HEL111; HsT2651
Summary: This gene encodes one of the three prealbumins, which include alpha-1-antitrypsin, transthyretin and orosomucoid. The encoded protein, transthyretin, is a homo-tetrameric carrier protein, which transports thyroid hormones in the plasma and cerebrospinal fluid. It is also involved in the transport of retinol (vitamin A) in the plasma by associating with retinol-binding protein. The protein may also be involved in other intracellular processes including proteolysis, nerve regeneration, autophagy and glucose homeostasis. Mutations in this gene are associated with amyloid deposition, predominantly affecting peripheral nerves or the heart, while a small percentage of the gene mutations are non-amyloidogenic. The mutations are implicated in the etiology of several diseases, including amyloidotic polyneuropathy, euthyroid hyperthyroxinaemia, amyloidotic vitreous opacities, cardiomyopathy, oculoleptomeningeal amyloidosis, meningocerebrovascular amyloidosis and carpal tunnel syndrome. [provided by RefSeq, Aug 2017]
Expression: Restricted expression toward liver (RPKM 2070.5) See more
Orthologs: mouse all
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Genomic context

Location:: 18q12.1

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	18	NC_000018.10 (31591877..31598821)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	18	NC_060942.1 (31782391..31789335)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	18	NC_000018.9 (29171840..29178784)

Chromosome 18 - NC_000018.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Structural and thermodynamic characterization of a highly amyloidogenic dimer of transthyretin involved in a severe cardiomyopathy.
Title: Structural and thermodynamic characterization of a highly amyloidogenic dimer of transthyretin involved in a severe cardiomyopathy.
Transthyretin monomers: a new plasma biomarker for pre-symptomatic transthyretin-related amyloidosis.
Title: Transthyretin monomers: a new plasma biomarker for pre-symptomatic transthyretin-related amyloidosis.
Conservation of kinetic stability, but not the unfolding mechanism, between human transthyretin and a transthyretin-related enzyme.
Title: Conservation of kinetic stability, but not the unfolding mechanism, between human transthyretin and a transthyretin-related enzyme.
Conformational Dynamics of an Amyloidogenic Intermediate of Transthyretin: Implications for Structural Remodeling and Amyloid Formation.
Title: Conformational Dynamics of an Amyloidogenic Intermediate of Transthyretin: Implications for Structural Remodeling and Amyloid Formation.
Cardiovascular autonomic failure in hereditary transthyretin amyloidosis and TTR carriers is an early and progressive disease marker.
Title: Cardiovascular autonomic failure in hereditary transthyretin amyloidosis and TTR carriers is an early and progressive disease marker.
Modeling transthyretin (TTR) amyloid diseases, from monomer to amyloid fibrils.
Title: Modeling transthyretin (TTR) amyloid diseases, from monomer to amyloid fibrils.
Scintigraphic and Echocardiographic Study of Patients with Pathogenic or Probably Pathogenic Variants of the TTR Gene without Overt Cardiac Involvement.
Title: Scintigraphic and Echocardiographic Study of Patients with Pathogenic or Probably Pathogenic Variants of the TTR Gene without Overt Cardiac Involvement.
Targeting TNF-alpha-induced expression of TTR and RAGE in rheumatoid arthritis: Apigenin's mediated therapeutic approach.
Title: Targeting TNF-α-induced expression of TTR and RAGE in rheumatoid arthritis: Apigenin's mediated therapeutic approach.
Altered gut microbiota in Taiwanese A97S predominant transthyretin amyloidosis with polyneuropathy.
Title: Altered gut microbiota in Taiwanese A97S predominant transthyretin amyloidosis with polyneuropathy.
Rare c.302C>T TTR Variant Associated with Transthyretin Amyloidosis.
Title: Rare c.302C>T TTR Variant Associated with Transthyretin Amyloidosis.

Submit: New GeneRIF Correction See all GeneRIFs (475)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Amyloidosis, hereditary systemic 1 MedGen: C2751492 OMIM: 105210 GeneReviews: Hereditary Transthyretin Amyloidosis	not available
Carpal tunnel syndrome 1 MedGen: C5779776 OMIM: 115430 GeneReviews: Not available	not available
Hyperthyroxinemia, dystransthyretinemic MedGen: C2750824 OMIM: 145680 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Genome-wide association study of circulating retinol levels. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	Microarray analysis indicates HIV-1 Tat-induced downregulation of transthyretin (TTR) in primary human brain microvascular endothelial cells	PubMed
	tat	The DNA repair gene DNA-PKcs and cell cycle-related genes Cdc20, Cdc25C, KIF2C and CTS1 are downregulated in HIV-1 Tat-expressing human rhabdomyosarcoma cells	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:217063 (e-PCR)
- UniSTS:156226

GDB:568908 (e-PCR)
- UniSTS:157762

GDB:192401 (e-PCR)
- UniSTS:155715

GDB:568915 (e-PCR)
- UniSTS:157763

GDB:192403 (e-PCR)
- UniSTS:155716

GDB:568923 (e-PCR)
- UniSTS:157764

RH11645 (e-PCR)
- UniSTS:68166

GDB:186202 (e-PCR)
- UniSTS:155479

GDB:186206 (e-PCR)
- UniSTS:155481

G29143 (e-PCR)
- UniSTS:5979

GDB:186319 (e-PCR)
- UniSTS:155484

GDB:186556 (e-PCR)
- UniSTS:155492

GDB:177915 (e-PCR)
- UniSTS:154981

GDB:176279 (e-PCR)
- UniSTS:154781

GDB:176280 (e-PCR)
- UniSTS:154782

GDB:176281 (e-PCR)
- UniSTS:154783

RH75505 (e-PCR)
- UniSTS:89012

GDB:181629 (e-PCR)
- UniSTS:155316

D18S1032 (e-PCR)
- UniSTS:9413

GDB:196602 (e-PCR)
- UniSTS:155873

RH76196 (e-PCR)
- UniSTS:92670

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables hormone activity	IEA Inferred from Electronic Annotation more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in purine nucleobase metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in azurophil granule lumen	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	NAS Non-traceable Author Statement more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in extracellular space	HDA more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: transthyretin

Names: epididymis luminal protein 111; prealbumin, amyloidosis type I; thyroxine-binding prealbumin

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.